G74C (p.Gly74Cys) variant of KRT9 (Keratin, type I cytoskeletal 9)
G74C (p.Gly74Cys) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G74C (p.Gly74Cys) variant details
- p.Gly74Cys
- TOPMed rs1188648638
- gnomAD rs1188648638
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.28
- CADD 11.80
- PolyPhen-2 0.08
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available